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Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the
enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic
dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. Two forms of the disease, acute and chronic, are thought to be from the residual enzyme activity in the liver. The diagnosis of the tyrosinemia type 1 is suggested by... |
